L1CAM Chromosome X
L1 cell adhesion molecule
Upload your DNA to see your personal genotypes for variants in L1CAM.
What This Gene Does
The protein encoded by this gene is an axonal glycoprotein belonging to the immunoglobulin supergene family. The ectodomain, consisting of several immunoglobulin-like domains and fibronectin-like repeats (type III), is linked via a single transmembrane sequence to a conserved cytoplasmic domain. This cell adhesion molecule plays an important role in nervous system development, including neuronal migration and differentiation. Mutations in the gene cause X-linked neurological syndromes known as CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia and hydrocephalus). Alternative splicing of this gene results in multiple transcript variants, some of which include an alternate exon that is considered to be specific to neurons. [provided by RefSeq, May 2013]
Gene Info
Gene Group
"CD molecules|Fibronectin type III domain containing|I-set domain containing|Ig-like cell adhesion molecule family"
Locus Type
gene with protein product
Location
Xq28
Ensembl
ENSG00000198910
Associated Conditions (28)
Spastic paraplegia
Inborn genetic diseases
MASA syndrome
X-linked complicated corpus callosum dysgenesis
X-linked hydrocephalus syndrome
See cases
Hereditary spastic paraplegia
L1CAM-related disorder
Hereditary ataxia
History of neurodevelopmental disorder
L1 syndrome
Intellectual disability
Thyroid cancer
nonmedullary
1
Nonpapillary renal cell carcinoma
Muscular dystrophy
limb-girdle
autosomal recessive 23
L1CAM-related disorders
+8 more conditions
Key Variants
RS1032992615
Conflicting classifications of pathogenicity
Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia
Health Risk
RS1064796541
Conflicting classifications of pathogenicity
Spastic paraplegia, Spastic paraplegia
Health Risk
RS1172761444
Conflicting classifications of pathogenicity
Spastic paraplegia, Spastic paraplegia
Health Risk
RS1206062430
Conflicting classifications of pathogenicity
Inborn genetic diseases, Spastic paraplegia, Inborn genetic diseases
Health Risk
RS1273221058
Conflicting classifications of pathogenicity
Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia
Health Risk
RS1298830102
Conflicting classifications of pathogenicity
Spastic paraplegia, MASA syndrome, X-linked complicated corpus callosum dysgenesis
Health Risk
RS1372534909
Conflicting classifications of pathogenicity
See cases, Spastic paraplegia, See cases
Health Risk
RS137940405
Conflicting classifications of pathogenicity
Spastic paraplegia, Spastic paraplegia
Health Risk
RS139197516
Conflicting classifications of pathogenicity
Inborn genetic diseases, Spastic paraplegia, MASA syndrome
Health Risk
RS141213959
Conflicting classifications of pathogenicity
Inborn genetic diseases, Spastic paraplegia, Inborn genetic diseases
Health Risk
RS1424993007
Conflicting classifications of pathogenicity
Spastic paraplegia, Hereditary spastic paraplegia, Spastic paraplegia
Health Risk
RS142563956
Conflicting classifications of pathogenicity
Spastic paraplegia, L1CAM-related disorder, Spastic paraplegia
Health Risk
All Variants (250)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1064793920 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS1131691666 | Health Risk | Pathogenic | — |
| RS1131691964 | Health Risk | Pathogenic | — |
| RS137852518 | Health Risk | Pathogenic | X-linked hydrocephalus syndrome, Spastic paraplegia, X-linked hydrocephalus syndrome |
| RS137852519 | Health Risk | Pathogenic | MASA syndrome, MASA syndrome |
| RS137852520 | Health Risk | Pathogenic | X-linked hydrocephalus syndrome, Spastic paraplegia, L1 syndrome |
| RS137852521 | Health Risk | Pathogenic | X-linked hydrocephalus syndrome, L1 syndrome, Inborn genetic diseases |
| RS137852523 | Health Risk | Pathogenic | MASA syndrome, MASA syndrome |
| RS137852524 | Health Risk | Pathogenic | MASA syndrome, Spastic paraplegia, X-linked hydrocephalus syndrome |
| RS137852525 | Health Risk | Pathogenic | X-linked hydrocephalus syndrome, Spastic paraplegia, L1 syndrome |
| RS1418885000 | Health Risk | Pathogenic | Spastic paraplegia, MASA syndrome, Spastic paraplegia |
| RS1557090143 | Health Risk | Pathogenic | — |
| RS1557090161 | Health Risk | Pathogenic | Spastic paraplegia, X-linked hydrocephalus syndrome, Spastic paraplegia |
| RS1557090314 | Health Risk | Pathogenic | — |
| RS1557091079 | Health Risk | Pathogenic | — |
| RS1557091377 | Health Risk | Pathogenic | — |
| RS1557091629 | Health Risk | Pathogenic | — |
| RS1557091773 | Health Risk | Pathogenic | Spastic paraplegia, MASA syndrome, Inborn genetic diseases |
| RS1557092042 | Health Risk | Pathogenic | — |
| RS1557092248 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS1557092418 | Health Risk | Pathogenic | — |
| RS1557092994 | Health Risk | Pathogenic | — |
| RS1557094409 | Health Risk | Pathogenic | — |
| RS1569544629 | Health Risk | Pathogenic | — |
| RS1569544723 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS1603273984 | Health Risk | Pathogenic | L1 syndrome, Ovarian serous cystadenocarcinoma, Spastic paraplegia |
| RS1603274308 | Health Risk | Pathogenic | — |
| RS1603274424 | Health Risk | Pathogenic | X-linked hydrocephalus syndrome, X-linked hydrocephalus syndrome |
| RS1603275195 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS1603275538 | Health Risk | Pathogenic | X-linked hydrocephalus syndrome, X-linked hydrocephalus syndrome |
| RS1603276024 | Health Risk | Pathogenic | L1 syndrome, L1 syndrome |
| RS1603277417 | Health Risk | Pathogenic | — |
| RS201311640 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2064686873 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2064703218 | Health Risk | Pathogenic | L1 syndrome, L1 syndrome |
| RS2064704974 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2148493243 | Health Risk | Pathogenic | MASA syndrome, Thyroid cancer, nonmedullary |
| RS2148493825 | Health Risk | Pathogenic | Global developmental delay, Spastic paraplegia, Global developmental delay |
| RS2148493879 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2148493891 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2148494055 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2148494096 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2148494337 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2148496168 | Health Risk | Pathogenic | — |
| RS2148498706 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2148498736 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2520950239 | Health Risk | Pathogenic | L1 syndrome, L1 syndrome |
| RS2520960421 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2520961299 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2520965602 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |